Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney et al. · npj Genomic Medicine · 2018 · 455 citations · Full text

Life Sciences, Genetics, Pediatrics +14

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Yang Tan, Belinda Chong et al. · Genetics in Medicine · 2016 · 411 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

Laurel K. Willig, Josh E Petrikin, Laurie D. Smith et al. · The Lancet Respiratory Medicine · 2015 · 406 citations · Full text

Life Sciences, Genetics, Pediatrics +15